Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.
ASJC Scopus subject areas
- Clinical Neurology